Disorders investigated

MUSCULAR DYSTROPHY AND MYOPATHY
Duchene (DMD) and Becker muscular dystrophy (BMD), DYS
Limb girdle muscular dystrophy
– Limb girdle muscular dystrophy LGMD1A, MYOT
            – Limb girdle muscular dystrophy LGMD1B, LMNA
            – Limb girdle muscular dystrophy LGMD1C, CAV3
            – Limb girdle muscular dystrophy LGMD2A, CAPN3
            – Limb girdle muscular dystrophy LGMD2B, DYSF
            – Limb girdle muscular dystrophy LGMD2C, SGCG
            – Limb girdle muscular dystrophy LGMD2D, SGCA
            – Limb girdle muscular dystrophy LGMD2E, SGCB
            – Limb girdle muscular dystrophy LGMD2F, SGCD
            – Limb girdle muscular dystrophy LGMD2I, FKRP
Congenital dystrophy:
–       Dystroglycan: POMT1, POMT2, POMGnT1, fukutin e LARGE.
Congenital myopathies:
–       Nemaline myopathy: NEB, KLHL40
–       Myofibrillar: DES, CRYAB, MYOT, ZASP e FLNC
Myoshi myopathy (MM), DYSF
Steinert Myotonic Dystrophy (MD1), DMPK
Myotonic Dystrophy type II (MD2), ZNF9
Hyperthermia Syndrome, RYR1
Inner bodies myopathy (recessive form), GNE

MUSCULAR CHANNELOPATHIES
Non-dystrophic myotonia
Congenital myotonia:
– Thomsen’s myotonia CLCN1
            – Becker’s myotonia, CLCN1
Sodium channel myotonia, SCN4A
Congenital paramyotonia, SCN4A
Periodic paralysis:
– hipokaliemic periodic paralysis, CACNA1S, SCN4A
            – iperkaliemic periodic paralysis, SCN4A
            – Andersen-Tawil syndrome, KCNJ2

NEUROMUSCULAR DISORDERS
Congenital myastenia:
–       pre-synaptic forms: CHAT
–       synaptic forms: COLQ
–       post-synaptic forms: CHRNE, CHRNA1, RAPSN

NEURODEGENERATIVE DISORDERS
Familial Creutzfeldt-Jakob Disease, PRPN
Inner bodies myopathy, Paget’s disease and fronto-temporal dementia (IBMPFD), VCP
Wilson disease, ATP7B
Fronto-temporal dementia, PGRN
Alzheimer’s disease, APOE haplotype

PARKINSON’S DISEASE
Autosomal dominant and recessive forms:
Dominant: SNCA (PARK1), PARK8, LRRK2
Recessive: PARK2, PINK1, PARK7, DJ1

MOTOR NEURON DISORDERS
Amyotrophic Lateral Sclerosis (ALS): SOD1, ANG, VAPB
Spinal Muscular Atrophy with respiratory distress (SMARD1), IGHMBP2
Dystal Spinal Muscular Atrophy type V (DSMAV), GARS
Spinal Muscular Atrophy 5q, SMN1 e SMN2

HEREDITARY NEUROPATHIES
Polyneuropathy with amyloidosis, autosomal dominant, TTR
Charcot-Marie-Tooth disease type 2A (CMT2A), MFN2
Charcot-Marie-Tooth disease type 2D (CMT2D), GARS
Charcot-Marie-Tooth disease type 2B1 (CMT2B1), LMNA
Charcot-Marie-Tooth disease type 4A (CMT4A), GDAP1

METABOLIC DISORDERS
Carnitine palmitoil-transferase, CPT2
Glycogen storage disorder type II, GAA
Glycogen storage disorder type III, AGL
Glycogen storage disorder type IV, GBE1
Myoadenilate deaminase deficiency, AMPD1
Enolase defect, ENO3

MITOCHONDRIAL DISORDERS
Kearns-Sayre Syndrome (KSS)
Progressive external ophthamoplegia (PEO)
Mitochondrial encephalopathy with ragged-red fibers (MERRF)
Mitochondrial encephalopathy with lactic acidosis and stroke (MELAS)
Leber Hereditary Optic Neuropathy (LHON)
Neuropahy, Ataxia and Retinitis Pigmentosa (NARP)
Leigh Syndrome (LS)
Encephalomyopathies resulting from mitochondrial respiratory chain defects
Syndrome featuring accumulation of multiple mitochondrial DNA deletions
Mitochondrial DNA depletion syndromes (MDS)
Dominant optic atrophy (DOA)




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